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rs137854542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137854542(C;T)
Make rs137854542(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position45891990
GeneCTSA, NEURL2
is asnp
is mentioned by
dbSNPrs137854542
ebirs137854542
HLIrs137854542
Exacrs137854542
Varsomers137854542
Maprs137854542
PheGenIrs137854542
hapmaprs137854542
1000 genomesrs137854542
hgdprs137854542
ensemblrs137854542
gopubmedrs137854542
geneviewrs137854542
scholarrs137854542
googlers137854542
pharmgkbrs137854542
gwascentralrs137854542
openSNPrs137854542
23andMers137854542
23andMe allrs137854542
SNP Nexus

SNPshotrs137854542
SNPdbers137854542
MSV3drs137854542
GWAS Ctlgrs137854542
Max Magnitude0
OMIM613111
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137854542(T;T)
Alt rs137854542(T;T)
Reference rs137854542(C;C)
Significance Pathogenic
Disease Combined deficiency of sialidase AND beta galactosidase
Variation info
Gene CTSA NEURL2
CLNDBN Combined deficiency of sialidase AND beta galactosidase
Reversed 0
HGVS NC_000020.10:g.44520629C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000410.4,